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001-es BibID:	BIBFORM005575
Első szerző:	Jiao, Hong
Cím:	Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups / Hong Jiao, Beata Toth, Melinda Erdos, Ingegerd Fransson, Eva Rakoczi, Istvan Balogh, Zoltan Magyarics, Beata Derfalvy, Gabriella Csorba, Anna Szaflarska, Andre Megarbane, Carlo Akatcherian, Ghassan Dbaibo, Eva Rajnavolgyi, Lennart Hammarstrom, Juha Kere, Gerard Lefranc, Laszlo Marodi
Dátum:	2008
Megjegyzések:	We Performed clinical, immunological and genetic studies of 12 hyper-IgE syndrome (HIES) patients from 4 Hungarian, 2 Lebanese, one Russian, one Polish, and one Swedish families with autosomal dominant (AD) or sporadic forms of the disease to reveal cross-ethnicity of recurrent and novel mutations in the signal transducer and activator of transcription-3 gene (STAT3). Four patients from 3 Hungarian families, and one Russian, and one Swedish patient carried the heterozygous R382W germline mutation at the DNA-binding site of STAT3. The recurrent V637M mutation affecting the SRC homology 2 (SH2) domain was detected in one Lebanese and one Polish family, and the V463del deletion located in the DNA-binding domain was unveiled in another Lebanese family. A novel H332Y mutation affecting the DNA-binding site of STAT3 in three Hungarian patients from a Gypsy family was also found. The segregation of this mutation with HIES, restriction fragment length polymorphism analysis of STAT3 from patients and controls and the negligible production upon IL-6 stimulation of monocyte chemotactic protein-1 by the patient's blood mononuclear cells suggested that the H332Y mutation was disease-causing. These data suggest, that dominant negative mutations of the DNA-binding and SH2 domains of STAT3 cause AD and sporadic cases of HIES in different ethnic groups with R382W as the predominant mutation found in 5 of the 9 families. Functional and genetic data support that the novel H332Y mutation may result in the loss of function of STAT3 and leads to the HIES phenotype.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Hyper-IgE syndrome STAT3 mutation DNA Cells egyetemen (Magyarországon) készült közlemény
Megjelenés:	Molecular Immunology. - 46 : 1 (2008), p. 202-206. -
További szerzők:	Lajszné Tóth Beáta (1978-) (molekuláris biológus) Erdős Melinda (1975-) (infektológus, gyermekimmunológus) Fransson, Ingegerd Rákóczi Éva (1962-) (klinikai szakorvos) Balogh István (1972-) (molekuláris biológus, genetikus) Magyarics Zoltán (1982-) (immunológus) Dérfalvy Beáta Csorba Gabriella Éva (1978-) (gyermekgyógyász) Szaflarska, Anna Megarbane, Andre Akatcherian, Carlo Dbaibo, Ghassan Rajnavölgyi Éva (1950-) (immunológus) Hammarström, Lennart Kere, Juha Lefranc, Gerard Maródi László (1949-) (gyermekgyógyász infektológus, immunológus)
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